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Article

[Analysis of a child with Osteo-oto-hepato-enteric syndrome and a literature review].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Mar 2026

Wang Dandan, Li Qianqian, Guo Hongxiang, Chen Yongning, Hao Qingfei, Xu Yanlei, Cheng Xiuyong

Abstract excerpt

OBJECTIVE: To analyze the phenotype and genotype of a neonate with Osteo-oto-hepato-enteric syndrome (O2HE) and review the literature. METHODS: A female neonate diagnosed with O2HE syndrome on December 13, 2024 at the First Affiliated Hospital of Zhengzhou University was selected as the study subject, and her clinical characteristics were analyzed, and pathogenic variants were explored by whole exome sequencing...

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Source

Identifiers

PMID: 41916887
DOI: 10.3760/cma.j.cn511374-20250912-00542

Genes

KY
UNC45A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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